Thrombocytopenia 4
|
0.710 |
Biomarker
|
disease |
CTD_human |
|
|
|
Thrombocytopenia 4
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Thrombocytopenia
|
0.650 |
Biomarker
|
phenotype |
HPO |
|
|
|
Retinitis Pigmentosa
|
0.010 |
Biomarker
|
disease |
BEFREE |
<b>Abbreviations</b>: CYCS: cytochrome c; bRHO<sup>P23H</sup>: bovine RHO<sup>P23H</sup>; Cas9: CRISPR associated protein 9; dpf: days post-fertilization; eGFP: enhanced green fluorescent protein; GNAT1: guanine nucleotide-binding protein G(t) subunit alpha-1 aka rod alpha-transducin; HSPA1A/hsp70: heat shock protein of 70 kilodaltons; LAMP1: lysosomal-associated membrane protein 1; LC3: microtubule-associated protein 1A/1B light chain 3; mRFP: monomeric red fluorescent protein; RHO: rhodopsin; RP: retinitis pigmentosa; RPE65: retinal pigment epithelium-specific 65 kDa protein: sfGFP: superfolding GFP; sgRNA: single guide RNA; WGA: wheat germ agglutinin; <i>RHO<sub>p</sub></i>: the <i>Xenopus laevis RHO.2.L</i> promoter.
|
30975014 |
2019 |
Frontotemporal dementia
|
0.010 |
Biomarker
|
disease |
BEFREE |
<b>Abbreviations:</b> 4HPR: 4-hydroxy(phenyl)retinamide; AKT: AKT1 serine/threonine kinase 1; ALS: amyotrophic lateral sclerosis; ATG: autophagy related; AVs: autophagic vesicle; C9orf72: chromosome 9 open reading frame 72; CASP3: caspase 3; CHAT: choline O-acetyltransferase; CYCS: cytochrome c, somatic; DIV: day in vitro; FTD: frontotemporal dementia; FUS: FUS RNA binding protein; GFP: green fluorescent protein; hiPSCs: human induced pluripotent stem cells; MAP1LC3/LC3: microtubule associated protein 1 light chain 3; MNs: motoneurons; mRFP: monomeric red fluorescent protein; MTOR: mechanistic target of rapamycin kinase; NFE2L2/NRF2: nuclear factor, erythroid 2 like 2; RARA: retinoic acid receptor alpha; SLC18A3/VACHT: solute carrier family 18 (vesicular acetylcholine transporter), member 3; SQSTM1/p62: sequestosome 1; TBK1: TANK binding kinase 1; TEM: transmission electron microscopy.
|
30939964 |
2019 |
Hypotonia-Cystinuria Syndrome
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Hypotonia-cystinuria syndrome (HCS, OMIM606407) is characterized by infantile hypotonia, poor feeding, and growth hormone deficiency.
|
23794250 |
2013 |
Thrombocytopenia 4
|
0.710 |
GeneticVariation
|
disease |
BEFREE |
THC4 is an autosomal dominant mild thrombocytopenia described in only one large family from New Zealand and due to a mutation (G41S) of the somatic isoform of the cytochrome c (CYCS) gene.
|
24326104 |
2014 |
Thrombocytopenia 4
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
THC4 is an autosomal dominant mild thrombocytopenia described in only one large family from New Zealand and due to a mutation (G41S) of the somatic isoform of the cytochrome c (CYCS) gene.
|
24326104 |
2014 |
Thrombocytopenia 4
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
THC4 is an autosomal dominant mild thrombocytopenia described in only one large family from New Zealand and due to a mutation (G41S) of the somatic isoform of the cytochrome c (CYCS) gene.
|
24326104 |
2014 |
Progressive Neoplastic Disease
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
Progressive disease that was unresponsive to augmented immunosuppression with CYC was seen in five patients.
|
29562252 |
2018 |
Progressive cGVHD
|
0.010 |
Biomarker
|
disease |
BEFREE |
Progressive disease that was unresponsive to augmented immunosuppression with CYC was seen in five patients.
|
29562252 |
2018 |
Leukopenia
|
0.010 |
Biomarker
|
disease |
BEFREE |
Leucopenia occurred more often in the CYC group compared to the TwHF group (P = 0.034).
|
31713733 |
2020 |
Refractory anemias
|
0.010 |
Biomarker
|
disease |
BEFREE |
CYC and etanercept (ETN) were administered to 62 and 24 RA patients, respectively, who were confirmed with biopsy as having AA amyloidosis.
|
22879465 |
2012 |
Rheumatoid Arthritis
|
0.010 |
Biomarker
|
disease |
BEFREE |
CYC and etanercept (ETN) were administered to 62 and 24 RA patients, respectively, who were confirmed with biopsy as having AA amyloidosis.
|
22879465 |
2012 |
Reactive systemic amyloidosis
|
0.010 |
Biomarker
|
disease |
BEFREE |
CYC and etanercept (ETN) were administered to 62 and 24 RA patients, respectively, who were confirmed with biopsy as having AA amyloidosis.
|
22879465 |
2012 |
AA amyloidosis
|
0.010 |
Biomarker
|
disease |
BEFREE |
CYC and etanercept (ETN) were administered to 62 and 24 RA patients, respectively, who were confirmed with biopsy as having AA amyloidosis.
|
22879465 |
2012 |
Malignant Neoplasms
|
0.020 |
GeneticVariation
|
group |
BEFREE |
CYC increases the risk of cancer, and HCQ decreases this risk in SLE patients, both in a dose-dependent manner.
|
28039419 |
2017 |
Primary malignant neoplasm
|
0.020 |
GeneticVariation
|
group |
BEFREE |
CYC increases the risk of cancer, and HCQ decreases this risk in SLE patients, both in a dose-dependent manner.
|
28039419 |
2017 |
Arterial aneurysm
|
0.010 |
Biomarker
|
disease |
BEFREE |
CYC and high dose glucocorticoids decreased mortality in pulmonary arterial aneurysms and postoperative complications in peripheral artery aneurysms.
|
30107448 |
2018 |
Behcet Syndrome
|
0.010 |
Biomarker
|
disease |
BEFREE |
CYC remains an important treatment option for Behçet's syndrome (BS) patients with life-threatening manifestations.
|
31840168 |
2019 |
Chondrosarcoma
|
0.050 |
Biomarker
|
disease |
BEFREE |
HCS-2/8 is a stable human chondrosarcoma cell line with many chondrocytic characteristics and has the capacity to form chondrosarcomas in nude mice.
|
8200849 |
1994 |
Thrombocytopenia 4
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia.
|
18345000 |
2008 |
Thrombocytopenia 4
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia.
|
18345000 |
2008 |
Thrombocytopenia 4
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia.
|
18345000 |
2008 |
Thrombocytopenia
|
0.650 |
Biomarker
|
phenotype |
CTD_human |
A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia.
|
18345000 |
2008 |